PKU

**Disclaimer: This is an extremely long post, but must be written, as it is an integral part of Emily's story**

I have to say, without question, those three letters have been the most life changing acronym I've ever known. Until June 21st I'd never even heard of PKU (Well I have heard of the test, but I now know that it is incorrectly labeled and is referred to as the newborn screening). It was a Tuesday night about 7:30pm and Earl and I were sitting at the table in the kitchen talking as we had just finished dinner. We were just talking about unimportant things, when the home phone rang. Our home phone doesn't ring too often, especially at night, but Earl hopped up to answer the phone. He answered the phone, and right away I could tell that the caller meant business or was discussing an important matter. After a few more seconds I figured out he was talking to Emily's doctor, Dr. Youngblood. I listened intently, trying to piece together a few of his responses, when I heard him say: "So what exactly is PKU?" That's when my heart dropped into my stomach. At that moment I did what any other rational parent would do.

I picked up my phone and pulled up Google.

I immediately typed in PKU and a plethora of  links came up. The first link listed gave a description of PKU that sounded something like this:

"PKU (phenylketonuria) is an inherited disorder that can cause mental retardation. Newborn screening helps early diagnosis and treatment."

And Earl wasn't even off the phone yet.

I immediately put down the phone and made the decision right then and there that I wouldn't look at another thing until I even knew if it was worth looking at.

I already felt myself tearing up a little and shortly Earl got off the phone. He then explained that Emily's levels for PKU were elevated on her newborn screening, and they needed further blood work to see what was going on. Dr. Youngblood had given Earl a brief synopsis of the disorder but said that sometimes these levels are off after the first few days of life and even themselves out. He could tell I was already beginning to get upset, so he, being the rock that he is, reassured me. "We don't even know if we need to worry about it at this point, so let's not until we know that we have to." She later called us back to give us instructions to go to a local Emory satellite office in our area. We needed to go the following day. We also decided together that we would withhold this information from those that love us and Emily most to protect them from worrying until we knew what was going on for sure.

The next day was a Wednesday, and I had a doctor's appointment myself for them to check my incision. We ran (I was unable to drive) by the pediatrician's office before the appointment and went up to the satellite office for the blood draw. There we were shuffled around a bit, from one person to the next. They clearly were unsure of whether or not they could even do the test, which made us greatly question their competency especially on our one week old. To spare the minute details, we left that office with an unsettling feeling in our stomachs and headed to my appointment. Emily's pediatrician personally called us on the way to my appointment and asked us to return to the satellite center the following day for the blood draw, and that someone there would be able to assist us.

We went to my appointment and proceeded about our evening (which for me, included a NKOTBSB concert with some dear friends) and then planned on going to have Emily's blood drawn the following morning. When I got home the previous night, Earl informed me that he didn't have a good feeling about the satellite office and that we would just take Emily to Children's Healthcare of Atlanta at Egleston for the blood work; we were confident that they knew what they were doing there, and I completely agreed.

The next morning as we were getting ready, our home phone rang again. The caller ID read "Emory Newborn Screening." I answered the phone and the voice on the other end said, "Mrs. Shaddix, we were calling to confirm and check that Emily has had some additional blood work done. We are anxious to get these results because Emily is in the critical range." I explained the situation and that we were headed to have the blood work done.

I hadn't even hardly gotten off the phone when Dr. Youngblood called. Earl answered the phone this time. "I hate to ask you this," she said, "but would you guys have a problem taking her to Egleston for this blood work?" Earl explained that we had already made that decision and were in the process of heading that way. "Good," she said, "I just don't get a good feeling about the other place."

So we headed to CHOA. As always, the place was ever accommodating, and the phlebotomist got the blood on the first stick. Emily handled it like a champ, once flinching at the first of the stick and never making a peep. We were told the blood would be taken over immediately and the results would be ready by the end of the day or the next. I can't really say what happened in the time that lapsed between Thursday afternoon and Friday. It consumed my thoughts and I tried to push it to the back of my mind but failed miserably.

Friday, Ella got up and went to VBS with Meme. Kora had be planning to bring her home for several days before so that Kate could see Emily. Around lunchtime they arrived. I had already called Emory once earlier in the morning and was told the results were not ready. Before hanging up I asked what time they closed, and they explained the clinic closed at 4pm.

And I wanted, needed to know before the weekend.

Ella and Kate had played and then laid down for naps and were snoozing soundly. I called again around 3:30pm, my last chance for the weekend. When I called this time, the sweet lady on the other end asked me if I could "hang on" instead of "they aren't ready yet."

And I knew.

She then came back on the line and said, "Sweetie, I'm going to transfer you to one of our nurses."

And then I really knew.

The nurse on the other end of the line was friendly and reassuring. She asked me what I knew, to which I responded "nothing." (she then explained that my pediatrician had already been notified, but hadn't called yet). So then she started in. I don't remember much about that conversation but that Dr. Singh would call me and they wanted to get Emily started right away on the formula.

I hung up the phone. And cried.

I really knew in my heart of hearts it was okay, but it still hurt. This is my baby we're talking about. In my head I was being strong, but in my heart I was disillusioned. I felt disbelief. This wasn't really happening, it wasn't true.

But it was. Emily has PKU.

I looked at Kora sitting next to me with tear-filled eyes, and hers looked the same. She hugged me and said, "God promises to never give you something you can't handle, but He never said you can't cry about it," and I did. I gave her the basic gist of the conversation that I had with the nurse and said, "I have to call Earl."

So I did. I managed to get out the basics through the tears. He said he was coming home.

Shortly after, Dr. Singh called me. Her first words were: "I'm so terribly sorry," and then she proceeded to tell me that we found it early enough and research shows (to which she has 20+ years) that when detected and levels are in the normal range within the first 20 days of life, the children with PKU have the same IQ as their siblings. She said a few other things and then mentioned the need for Emily to start on the formula immediately.

"You won't believe this," she said, "but coincidentally this week I have been leading a summer camp at Emory for 30 teenage girls with PKU. We have been learning about diets, cooking, dining out, and lifestyles, and tonight is our end of camp banquet. We would love for you to come, meet me and the other staff at the clinic, the girls, and have dinner if you're comfortable. At the very least, you can come get the formula and leave."

Wow. Just wow.

"First of all, Dr. Singh, this is no coincidence. Second of all, we appreciate you so much inviting us and including us in this banquet. Let me talk to my husband and we will decide on what we will do."

And then, I knew. If I ever doubted before, I knew that God had this road all paved for us.

As Earl, Emily, and I headed up to the Emory Conference Center and Hotel, Earl called our parents. At that point I knew I couldn't talk about it without getting all upset, and therefore wouldn't be able to communicate clearly. I listened as he explained Emily's newly diagnosed condition, getting teary eyed each time. He handed me the phone a few minutes into the conversation with my dad:

"Here, your dad wants to talk to you."

I shook my head "no" while giving him a silent "I thought we had talked about this" look. He simply pushed the phone my way and looked at me like "I'm not telling him no."

So I grabbed the phone, uttered "hey, dad" and immediately started crying. He did the same and said how sorry he was and how much he loved us all and how she's going to be okay. I agreed and said that I knew that this was something to stretch our faith but that it just hurts when it's about your kid. He was working on a vehicle at Pastor Rick's house when we called so Pastor Rick got on the phone and prayed with Earl and I as we were driving down the road.

After we hung up we rode a majority of the way in silence until we got to the conference center. We had decided that we would just go in and get the formula and leave, and bypass the whole "being social" for the evening. I didn't want to get upset every time I talked about it to this group of complete strangers, and just wanted some time to process and grieve all that I had taken in over the last couple of hours. Earl, unbeknownst to me, had done a ton of research on the Internet over the previous days, and was able to better explain the disorder to me and others very objectively and while sounding well educated.

We parked in the deck of the hotel and went to the front desk to retrieve the formula. When we got there, the gentleman was unable to locate it, and directed us to the ballroom where the banquet was being held.

That meant we were going to have to talk and mingle.

And this too, is just one more detail God orchestrated. It was the best thing that could've happened to us as parents so early on in diagnosis. The can of formula was actually at the front desk of the ballroom, where the "campers" and their families were to check in. We received the formula and right away were greeted by Emily's doctor, Dr. Singh. She was friendly and warm, immediately hugging me and oohing and aahing over Emily.

We were then whisked into this whirlwind of all things PKU. We talked to parents, met girls, joined a PKU support group and met the founders, were introduced to Emily's dietitian, Maria, and found out about and talked to the food distributors of Emily's medical formula and one day the medical and specialty foods she will eat. It was a whole lot to take in, but it was such a positive experience. Everyone just thought Emily was the sweetest little baby and as they shared their story of their daughter and all that she was involved in (cheerleading, softball, honor graduate, college bound, and even career goals) the sadness began to escape me. I began to see that these girls ate special food and had a few extra steps (ok, a lot of extra steps) in their daily lives, but they were "normal." They even "liked" their food, and as they all explained, PKU was truly just a part of their daily lives. As the banquet started, Emily got hungry, so while I was gone to nurse her (she was breastfeeding at this point), Earl got to hear about research, clinical trials, medicine, and even a meter that hopefully soon will be used to detect the amount of phenylalanine (Phe) in the blood.

We stayed there for a couple of hours, and by the time we were on the way home, I was totally fine to talk to people. So I called my mom and Earl's mom to let them know I was okay and the some of the information we had just taken in.

The following Tuesday was Emily's first appointment at the Emory Genetics Clinic. There we were given a very lengthy and detailed science lesson in genetics and were explained how we were to care for Emily. Basically right now, Emily is on a very precise formula which is specifically for her and the amount of Phe in her blood. The medical formula (which contains most of the nutrients Emily needs to grow and develop physically) is weighed in grams and added to breast milk (her source of protein, which has to be closely monitored, and other nutrients). *Note: this prescription in now based on the medical formula and a regular formula, Similac Advanced. Emily also has to have her blood checked through a heel prick each week. The blood samples are sent in to the lab and then her levels are what her food prescription is based off of.

Whew! And that's just the beginning. I'm sure there is much more to the "PKU  Story" that will come...

For a short description and explanation of PKU, visit this site

For details or a longer version, visit here or here.  

"But he said to me, 'My grace is sufficient for you, for my power is made perfect in weakness.' Therefore I will boast all the more gladly about my weaknesses, so that Christ’s power may rest on me."

-2 Corinthians 12:9